Naomi Meeks
University of Colorado Anschutz Medical Campus(US)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genomic variations and chromosomal abnormalities, Genetics and Neurodevelopmental Disorders, Metabolism and Genetic Disorders, Congenital heart defects research
Most-Cited Works
- → Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes(2018)181 cited
- → The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families(2016)118 cited
- → De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder(2017)107 cited
- → Automated syndrome diagnosis by three-dimensional facial imaging(2020)101 cited
- → The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy(2019)99 cited
- → Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions(2020)36 cited
- → Juvenile myelomonocytic leukemia-associated variants are associated with neo-natal lethal Noonan syndrome(2017)28 cited
- → A clinically validated whole genome pipeline for structural variant detection and analysis(2019)28 cited
- → Expanding the phenotype of ASXL3‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3(2021)23 cited
- → Characterization of patients referred for non‐specific intellectual disability testing: the importance of autosomal genes for diagnosis(2015)22 cited